This process has been broadly investigated in the context of diabetic neuropathies.14-16 Biallelic pathogenic SORD mutations result in a loss of SORD function and lead to a conspicuous accumulation of sorbitol in patient serum and fibroblasts.1 A promising clinical trial with a novel AR inhibitor, AT-007/govorestat,17 is ongoing (NCT05397665), motivating a further characterization of the full clinical and biochemical phenotypic and genotypic spectrum of CMT-SORD. This evidence concerns the gene SORD and Charcot-Marie-Tooth disease.